Canonical Allele Identifier: CA372763467

Gene: DOCK8

Linked Data

• ClinVar Variation Id: 988732
• ClinVar RCV Id: RCV001270395
• gnomAD v4: 9-377171-C-A
• MyVariant Identifiers: chr9:g.377171C>A (hg19) ; chr9:g.377171C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377171C>A , CM000671.2:g.377171C>A	GRCh38
NC_000009.11:g.377171C>A , CM000671.1:g.377171C>A	GRCh37
NC_000009.10:g.367171C>A	NCBI36
NG_017007.1:g.167307C>A , LRG_196:g.167307C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2196C>A	ENSP00000371766.2:p.Phe732Leu
ENST00000382331.6:n.897C>A
ENST00000483757.6:c.*1087C>A	ENSP00000417691.2:n.*1087C>A
ENST00000682260.1:n.2296C>A
ENST00000685949.1:n.1188C>A
ENST00000432829.7:c.2400C>A MANE Select	ENSP00000394888.3:p.Phe800Leu
ENST00000382329.1:c.801C>A	ENSP00000371766.1:p.Phe267Leu
ENST00000382331.5:c.306C>A	ENSP00000371768.1:p.Phe102Leu
ENST00000432829.6:c.2400C>A	ENSP00000394888.3:p.Phe800Leu
ENST00000453981.5:c.2196C>A	ENSP00000408464.2:p.Phe732Leu
ENST00000469391.5:c.2196C>A	ENSP00000419438.1:p.Phe732Leu
ENST00000483757.5:c.*1875C>A	ENSP00000417691.1:n.*1875C>A
ENST00000495184.5:n.4355C>A
NM_001190458.1:c.2196C>A	NP_001177387.1:p.Phe732Leu
NM_001193536.1:c.2196C>A	NP_001180465.1:p.Phe732Leu
NM_203447.3:c.2400C>A , LRG_196t1:c.2400C>A	NP_982272.2:p.Phe800Leu
XM_011518045.1:c.2196C>A	XP_011516347.1:p.Phe732Leu
XM_011518046.1:c.2262C>A	XP_011516348.1:p.Phe754Leu
XM_011518047.1:c.2196C>A	XP_011516349.1:p.Phe732Leu
XM_011518048.1:c.2196C>A	XP_011516350.1:p.Phe732Leu
XM_011518049.1:c.636C>A	XP_011516351.1:p.Phe212Leu
XM_011518045.3:c.2196C>A	XP_011516347.1:p.Phe732Leu
XM_011518046.2:c.2262C>A	XP_011516348.1:p.Phe754Leu
XM_011518047.3:c.2196C>A	XP_011516349.1:p.Phe732Leu
XM_011518048.2:c.2196C>A	XP_011516350.1:p.Phe732Leu
XM_011518049.2:c.636C>A	XP_011516351.1:p.Phe212Leu
XM_017015173.1:c.2196C>A	XP_016870662.1:p.Phe732Leu
XM_017015174.1:c.2262C>A	XP_016870663.1:p.Phe754Leu
NM_001190458.2:c.2196C>A	NP_001177387.1:p.Phe732Leu
NM_001193536.2:c.2196C>A	NP_001180465.1:p.Phe732Leu
NM_203447.4:c.2400C>A MANE Select	NP_982272.2:p.Phe800Leu